ESPE Abstracts

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. Penetrance increases with age. It combines mainly hyperparathyroidism, adenomas of the pancreas and pituitary gland. The prevalence is about 2/100 000. Diagnosis in children is rare except in the case of family screening. We report the diagnosis of a familial MEN1 whose index case was an adolescent girl investigated because of hypoglycae...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...